Variant report

Variant	rs57799150
Chromosome Location	chr1:173730310-173730311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173727893..173730876-chr1:173792741..173795143,2	K562	blood:

Variant related genes	Relation type
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10912670	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10912671	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12082131	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12086229	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12561931	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12564699	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12565915	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12566945	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1322774	0.94[ASN][1000 genomes]
rs16846439	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1951625	0.94[ASN][1000 genomes]
rs2067079	0.94[ASN][1000 genomes]
rs2144708	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2208850	0.94[ASN][1000 genomes]
rs2273366	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281486	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2295366	0.94[ASN][1000 genomes]
rs28804123	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791020	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs45467799	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4558043	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55633896	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55829688	0.94[ASN][1000 genomes]
rs56019876	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56048122	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138893	0.91[ASN][1000 genomes]
rs56369162	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56928371	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58287165	0.90[ASN][1000 genomes]
rs58825445	0.92[ASN][1000 genomes]
rs59858609	0.90[ASN][1000 genomes]
rs60264384	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826805	0.91[ASN][1000 genomes]
rs61826806	0.91[ASN][1000 genomes]
rs61826809	0.91[ASN][1000 genomes]
rs61826810	0.91[ASN][1000 genomes]
rs61826812	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826813	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826821	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826856	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826857	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827860	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827861	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827863	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827865	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61827867	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827870	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827876	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61827877	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61827881	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61827925	0.94[ASN][1000 genomes]
rs6413827	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425253	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425258	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425261	0.94[ASN][1000 genomes]
rs6668702	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6673175	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6674381	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6681766	0.91[ASN][1000 genomes]
rs6691001	0.94[ASN][1000 genomes]
rs6696680	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7514556	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7515721	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7521884	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530546	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7546048	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7548171	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7552741	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425416	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425745	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425756	0.93[ASN][1000 genomes]
rs9660881	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57799150	DARS2	cis	Muscle Skeletal	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173713400-173731600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:173720000-173730600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:173721000-173730400	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:173726600-173749000	Weak transcription	Fetal Heart	heart
6	chr1:173727200-173744000	Weak transcription	NH-A	brain
7	chr1:173727400-173730400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:173727600-173744600	Weak transcription	HSMM	muscle
9	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
10	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
11	chr1:173727800-173743600	Weak transcription	HepG2	liver
12	chr1:173727800-173744000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:173728000-173744400	Weak transcription	NHLF	lung
14	chr1:173728400-173730400	ZNF genes & repeats	Fetal Brain Female	brain
15	chr1:173728400-173730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:173728400-173743400	Weak transcription	NHEK	skin
17	chr1:173728400-173744200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:173728400-173744200	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:173728600-173731200	Weak transcription	Stomach Mucosa	stomach
20	chr1:173728600-173735400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:173728600-173737400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:173728600-173743200	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:173728600-173743200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:173728600-173743600	Weak transcription	Brain Substantia Nigra	brain
25	chr1:173728600-173744400	Weak transcription	Fetal Brain Male	brain
26	chr1:173728800-173731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:173728800-173733000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:173728800-173735200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:173728800-173735200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:173728800-173735200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:173728800-173735200	Weak transcription	Fetal Stomach	stomach
32	chr1:173728800-173735200	Weak transcription	Left Ventricle	heart
33	chr1:173728800-173735200	Weak transcription	Ovary	ovary
34	chr1:173728800-173738200	Weak transcription	Esophagus	oesophagus
35	chr1:173728800-173740400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:173728800-173743400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:173728800-173743400	Weak transcription	Gastric	stomach
38	chr1:173728800-173743400	Weak transcription	Lung	lung
39	chr1:173728800-173743600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:173728800-173744000	Weak transcription	Aorta	Aorta
41	chr1:173728800-173744200	Weak transcription	Pancreas	Pancrea
42	chr1:173728800-173744200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:173728800-173744200	Weak transcription	HMEC	breast
44	chr1:173728800-173744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:173728800-173744600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:173728800-173744600	Weak transcription	Osteobl	bone
47	chr1:173728800-173748600	Weak transcription	Hela-S3	cervix
48	chr1:173728800-173749000	Weak transcription	Colonic Mucosa	Colon
49	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell

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